← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-13923430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13923430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13923430,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017721.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "NM_017721.5",
"protein_id": "NP_060191.3",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 951,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318003.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017721.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "ENST00000318003.11",
"protein_id": "ENSP00000313601.6",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 951,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017721.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318003.11"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "ENST00000589606.5",
"protein_id": "ENSP00000467526.1",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 950,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589606.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000586955.5",
"protein_id": "ENSP00000465376.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000586955.5",
"protein_id": "ENSP00000465376.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586955.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "ENST00000870936.1",
"protein_id": "ENSP00000540995.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 982,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870936.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "ENST00000870939.1",
"protein_id": "ENSP00000540998.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 957,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870939.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Thr592Ile",
"transcript": "ENST00000870940.1",
"protein_id": "ENSP00000540999.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 957,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870940.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Thr585Ile",
"transcript": "ENST00000870935.1",
"protein_id": "ENSP00000540994.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 956,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870935.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000870942.1",
"protein_id": "ENSP00000541001.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 953,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870942.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1742C>T",
"hgvs_p": "p.Thr581Ile",
"transcript": "ENST00000870932.1",
"protein_id": "ENSP00000540991.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 952,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870932.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "NM_001411138.1",
"protein_id": "NP_001398067.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 950,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411138.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Ile",
"transcript": "ENST00000870926.1",
"protein_id": "ENSP00000540985.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 950,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870926.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Ile",
"transcript": "ENST00000870928.1",
"protein_id": "ENSP00000540987.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 949,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870928.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000870924.1",
"protein_id": "ENSP00000540983.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 947,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870924.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Thr575Ile",
"transcript": "ENST00000870925.1",
"protein_id": "ENSP00000540984.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 946,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870925.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000870927.1",
"protein_id": "ENSP00000540986.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 946,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870927.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Thr575Ile",
"transcript": "ENST00000870930.1",
"protein_id": "ENSP00000540989.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 945,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870930.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile",
"transcript": "ENST00000870931.1",
"protein_id": "ENSP00000540990.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 945,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870931.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000870934.1",
"protein_id": "ENSP00000540993.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 941,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870934.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Thr569Ile",
"transcript": "ENST00000870933.1",
"protein_id": "ENSP00000540992.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 940,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870933.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000952980.1",
"protein_id": "ENSP00000623039.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 940,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952980.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Thr575Ile",
"transcript": "ENST00000952983.1",
"protein_id": "ENSP00000623042.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 940,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952983.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Thr568Ile",
"transcript": "ENST00000870937.1",
"protein_id": "ENSP00000540996.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 939,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870937.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Thr566Ile",
"transcript": "ENST00000952979.1",
"protein_id": "ENSP00000623038.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 937,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952979.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"transcript": "ENST00000933110.1",
"protein_id": "ENSP00000603169.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 936,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933110.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1691C>T",
"hgvs_p": "p.Thr564Ile",
"transcript": "ENST00000952981.1",
"protein_id": "ENSP00000623040.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 935,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952981.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1691C>T",
"hgvs_p": "p.Thr564Ile",
"transcript": "ENST00000870929.1",
"protein_id": "ENSP00000540988.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 934,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870929.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000870938.1",
"protein_id": "ENSP00000540997.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 908,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870938.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Thr411Ile",
"transcript": "ENST00000952982.1",
"protein_id": "ENSP00000623041.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 782,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952982.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1187C>T",
"hgvs_p": "p.Thr396Ile",
"transcript": "ENST00000870941.1",
"protein_id": "ENSP00000541000.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 767,
"cds_start": 1187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870941.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Thr165Ile",
"transcript": "ENST00000680977.1",
"protein_id": "ENSP00000506358.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 567,
"cds_start": 494,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680977.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Thr34Ile",
"transcript": "ENST00000587508.1",
"protein_id": "ENSP00000466586.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 404,
"cds_start": 101,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587508.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Ile",
"transcript": "XM_047439012.1",
"protein_id": "XP_047294968.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 950,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439012.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Ile",
"transcript": "XM_047439014.1",
"protein_id": "XP_047294970.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 949,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439014.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "XM_047439015.1",
"protein_id": "XP_047294971.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 947,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439015.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Thr575Ile",
"transcript": "XM_047439016.1",
"protein_id": "XP_047294972.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 946,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439016.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "XM_047439017.1",
"protein_id": "XP_047294973.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 946,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439017.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Thr575Ile",
"transcript": "XM_047439018.1",
"protein_id": "XP_047294974.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 945,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439018.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"transcript": "XM_047439019.1",
"protein_id": "XP_047294975.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 571,
"cds_start": 599,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439019.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Thr144Ile",
"transcript": "XM_047439020.1",
"protein_id": "XP_047294976.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 515,
"cds_start": 431,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"transcript": "ENST00000588932.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.863C>T",
"hgvs_p": null,
"transcript": "ENST00000589138.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589138.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.536C>T",
"hgvs_p": null,
"transcript": "ENST00000679637.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.438C>T",
"hgvs_p": null,
"transcript": "ENST00000679937.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"transcript": "ENST00000681428.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.496C>T",
"hgvs_p": null,
"transcript": "ENST00000681846.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.-149C>T",
"hgvs_p": null,
"transcript": "ENST00000589224.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.*31C>T",
"hgvs_p": null,
"transcript": "ENST00000589679.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589679.5"
}
],
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"dbsnp": "rs202057391",
"frequency_reference_population": 0.00537224,
"hom_count_reference_population": 28,
"allele_count_reference_population": 8671,
"gnomad_exomes_af": 0.00544913,
"gnomad_genomes_af": 0.00463449,
"gnomad_exomes_ac": 7965,
"gnomad_genomes_ac": 706,
"gnomad_exomes_homalt": 24,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007769644260406494,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.239,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.504,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017721.5",
"gene_symbol": "CC2D1A",
"hgnc_id": 30237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Ile"
}
],
"clinvar_disease": " autosomal recessive 3,CC2D1A-related disorder,Inborn genetic diseases,Intellectual disability,Smith-Magenis Syndrome-like,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1 LB:3 B:2",
"phenotype_combined": "not specified|Smith-Magenis Syndrome-like|not provided|Intellectual disability, autosomal recessive 3|Inborn genetic diseases|CC2D1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}